Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HLCS Gene

protein-coding GIFtS: 61
GCID: GC21M038123

holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase...

(Previous names: holocarboxylase synthetase (biotin-[proprionyl-Coenzyme...)

Explore 21 diseases affiliated with
HLCS via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, and/or ¹¹Nature:405,311-319 and CroW21)
About This Section

Aliases
Holocarboxylase Synthetase (Biotin-(Proprionyl-CoA-Carboxylase (ATP-Hydrolysing)) Ligase)¹ ²		Biotin--[Acetyl-CoA-Carboxylase] Ligase²
HCS¹ ² ⁵		Biotin--[Methylcrotonoyl-CoA-Carboxylase] Ligase²
Holocarboxylase Synthetase (Biotin-(Proprionyl-Coenzyme A-Carboxylase (ATP-Hydrolysing)) Ligase)¹ ²		Biotin--[Methylmalonyl-CoA-Carboxytransferase] Ligase²
Biotin Apo-Protein Ligase² ³		Biotin--Protein Ligase²
Holocarboxylase Synthetase (Biotin-[Proprionyl-Coenzyme A-Carboxylase (ATP-Hydrolysing)] Ligase)¹		EC 6.3.4.-³
Holocarboxylase Synthetase, EC 6.3.411

External Ids:	HGNC: 4976¹	Entrez Gene: 3141²	Ensembl: ENSG00000159267⁷	OMIM: 609018⁵	UniProtKB: P50747³

Export aliases for HLCS gene to outside databases

Previous GC identifers: GC21M034700 GC21M037043 GC21M037045 GC21M023599

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HLCS:

This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an

important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene

are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same

protein, have been identified.(provided by RefSeq, Jun 2011)

UniProtKB/Swiss-Prot: BPL1_HUMAN, P50747

Function: Post-translational modification of specific protein by attachment of biotin. Acts on various carboxylases

such as acetyl-CoA-carboxylase, pyruvate carboxylase, propionyl CoA carboxylase, and 3-methylcrotonyl CoA carboxylase

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section

RefSeq DNA sequence:

NC_000021.8 NC_018932.1 NT_011512.11

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HLCS gene promoter:
TBP MAZR FOXF2 NF-kappaB E4BP4 RORalpha1 FOXJ2 (long isoform) FOXJ2 NF-kappaB1 Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): HLCS promoter sequence

Search SABiosciences Chromatin IP Primers for HLCS

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HLCS

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.13 Ensembl cytogenetic band: 21q22.13 HGNC cytogenetic band: 21q22.1
Nature(405: 311-319) cytogenetic band: 21q22.13

HLCS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HLCS gene location

GeneLoc information about chromosome 21 GeneLoc Exon Structure

(about GC identifiers)

GC21M038123:	GeneLoc	Nature:405,311-319
Start:	38,123,189 bp from pter	23,699,922 bp from centromere
End:	38,362,536 bp from pter	23,910,899 bp from centromere
Size:	239,348 bases	210,978 bases
Orientation:	minus strand	minus strand

Whole chromosome sequencing:
cDNA sequence:	D87328
genomic clones:	KB594G10 to pD47

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BPL1_HUMAN, P50747 (See protein sequence)

Recommended Name: Biotin--protein ligase

Size: 726 amino acids; 80760 Da

Subunit: Monomer

Subcellular location: Cytoplasm. Mitochondrion

Secondary accessions: D3DSG6 Q99451

Explore the universe of human proteins at neXtProt for HLCS: NX_P50747

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P50747

HLCS Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_000402.3 NP_001229713.1 NP_001229714.1

ENSEMBL proteins:

ENSP00000382071 ENSP00000338387 ENSP00000392923 ENSP00000396370 ENSP00000396443

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: HLCS OriGene Protein Over-expression Lysate: HLCS OriGene Custom Protein Services for HLCS
	GenScript Custom Purified and Recombinant Proteins Services for HLCS
	Novus Biologicals HLCS Proteins Novus Biologicals HLCS Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for HLCS

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000785	chromatin	IDA	14613969
GO:0005625	soluble fraction	--	--
GO:0005652	nuclear lamina	IDA	14613969
GO:0005737	cytoplasm	IDA	--
GO:0005739	mitochondrion	IEA	--

HLCS for ontologies About GeneDecksing

HLCS Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	OriGene Antibodies: HLCS OriGene Custom Antibody Services for HLCS
	GenScript Custom Superior Antibodies Services for HLCS
	Novus Biologicals HLCS Antibodies
	Abcam antibodies for HLCS
	Uscn Antibodies for HLCS
	Search ThermoFisher Antibodies for HLCS

Assay Products for HLCS:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for HLCS
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for HLCS

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HLCS for domains About GeneDecksing

3 InterPro domains/families:

IPR003142 BPL_C

IPR004408 Biotin_CoA_COase_ligase

IPR004143 BPL_LipA_LipB

Graphical View of Domain Structure for InterPro Entry P50747

ProtoNet protein and cluster: P50747

1 Blocks protein family: IPB003142 Biotin protein ligase

UniProtKB/Swiss-Prot: BPL1_HUMAN, P50747

Similarity: Belongs to the biotin--protein ligase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: BPL1_HUMAN, P50747

Function: Post-translational modification of specific protein by attachment of biotin. Acts on various carboxylases

such as acetyl-CoA-carboxylase, pyruvate carboxylase, propionyl CoA carboxylase, and 3-methylcrotonyl CoA carboxylase

Catalytic activity: ATP + biotin + apo-[methylmalonyl-CoA:pyruvate carboxytransferase] = AMP + diphosphate +

[methylmalonyl-CoA:pyruvate carboxytransferase]

Catalytic activity: ATP + biotin + apo-[propionyl-CoA:carbon-dioxide ligase (ADP-forming)] = AMP + diphosphate +

[propionyl-CoA:carbon-dioxide ligase (ADP-forming)]

Catalytic activity: ATP + biotin + apo-[3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)] = AMP + diphosphate

+ [3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)]

Catalytic activity: ATP + biotin + apo-[acetyl-CoA:carbon-dioxide ligase (ADP-forming)] = AMP + diphosphate +

[acetyl-CoA:carbon-dioxide ligase (ADP-forming)]

Biophysicochemical properties: Kinetic parameters: KM=224 nM for biotin; Vmax=143.9 pmol/min/mg enzyme;

Genatlas biochemistry entry for HLCS:

holocarboxylase synthetase,80kDa,cytosolic,with two alternatively spliced isoforms,catalyzing the biotinylation of the

four biotin-dependent carboxylases,including the mitochondrial pyruvate carboxylase,propionyl-CoA

carboxylase,methylcrotonyl-CoA carboxylase and the cytosolic acetyl-CoA carboxylase

Enzyme Number (IUBMB): EC 6.3.4.-¹

miRNA Products:		OriGene 3'-UTR Clone: HLCS Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HLCS
		8/36 QIAGEN miScript miRNA Assays for microRNAs that regulate HLCS (see all 36):
		hsa-miR-411* hsa-miR-607 hsa-miR-4307 hsa-miR-379* hsa-miR-218-1* hsa-miR-766 hsa-miR-9 hsa-miR-2116

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HLCS (see all 4) OriGene shRNA RFP: HLCS OriGene siRNA: HLCS
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HLCS

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for HLCS

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HLCS (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HLCS OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: HLCS (NM_000411)
		Sino Biological Human cDNA Clone for HLCS
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for HLCS
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HLCS

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for HLCS
		Search LifeMap BioReagents cell lines for HLCS

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLCS

Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004077	biotin-[acetyl-CoA-carboxylase] ligase activity	IEA	--
GO:0004078	biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity	IEA	--
GO:0004079	biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity	IEA	--
GO:0004080	biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity	IDA	7842009
GO:0005524	ATP binding	IEA	--

HLCS for ontologies About GeneDecksing

Animal Models:
1 MGI phenotypic allele

for Hlcs (no phenotypes)

HLCS for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Biotin metabolism

Biotin metabolism

1.00

Saturated fatty acid biosynthesis

biotin-carboxyl carrier protein assembly

0.50

Metabolism

Metabolic pathways

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for HLCS

biotin-carboxyl carrier protein assembly

2 Kegg Pathways (Kegg details for HLCS):

	Biotin metabolism
	Metabolic pathways

HLCS for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for HLCS

STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

5/23 Interacting proteins for HLCS (P50747^{2, 3} ENSP00000338387⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 23)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ACACB	O00763²^,³, ENSP00000367079⁴	MINT-7543053 MINT-7543129 MINT-7543070 MINT-7543096 I2D: score=2 STRING: ENSP00000367079
NHP2L1	P55769³	I2D: score=3
ADA	P00813³	I2D: score=1
ATP5A1	P25705³	I2D: score=1
ATP5B	P06576³	I2D: score=1

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006464	cellular protein modification process	--	--
GO:0008283	cell proliferation	IMP	18429047
GO:0009305	protein biotinylation	IDA	7842009
GO:0016570	histone modification	IDA	14613969
GO:0070781	response to biotin	IDA	17904341

HLCS for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

HLCS for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HLCS

6 HMDB Compounds for HLCS About this table

Compound	Synonyms	CAS #	PubMed Ids
Adenosine monophosphate	5'-AMP (see all 28)	61-19-8	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Biotin	(+)-Biotin (see all 42)	58-85-5	--
Biotinyl-5'-AMP	(+)-Biotinyl 5'-adenylate (see all 11)	4130-20-5	--
Phosphoric acid	acide phosphorique (FRENCH) (see all 20)	7664-38-2	--
Pyrophosphate	(4-)Diphosphoric acid ion (see all 10)	14000-31-8	--

1 DrugBank Compound for HLCS About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Biotin	(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid (see all 7)	58-85-5	target	--	17056793 16772434 16359899

10/17 Novoseek chemical compound relationships for HLCS gene (see all 17) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
biotin	93.9	311	17904341 (9), 19056636 (9), 10590022 (6), 19160459 (5) (see all 85)
3-methylcrotonyl-coa	79.5	3	10770035 (1), 16398167 (1)
multivitamin	67	2	20357078 (1), 15905112 (1)
d-biotin	66.3	2	8814349 (1)
acetyl-coa	63.6	8	11959985 (1), 20443544 (1), 10770035 (1), 19914215 (1) (see all 5)
lysine	57.6	15	16772434 (1), 20026029 (1), 15992689 (1), 19369050 (1) (see all 7)
pyruvate	45.9	3	16417669 (1), 10770035 (1)
carnitine	34.1	6	16494802 (2), 17417720 (2), 8006369 (1), 7707691 (1)
s-adenosylmethionine	26.5	1	17441947 (1)
fatty acid	22.6	2	19740736 (1)

Search CenterWatch for drugs/clinical trials and news about HLCS / BPL1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for HLCS gene (3 alternative transcripts):

NM_000411.6 NM_001242784.1 NM_001242785.1

Unigene Cluster for HLCS:

Holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)

Hs.371350 [show with all ESTs]

Unigene Representative Sequence: NM_001242784

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000399120(uc010gnb.3 uc010gnc.2) ENST00000336648(uc021wjb.1 uc002yvs.3)

ENST00000482273 ENST00000448340 ENST00000419461 ENST00000427746

miRNA Products:		OriGene 3'-UTR Clone: HLCS Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HLCS
		8/36 QIAGEN miScript miRNA Assays for microRNAs that regulate HLCS (see all 36):
		hsa-miR-411* hsa-miR-607 hsa-miR-4307 hsa-miR-379* hsa-miR-218-1* hsa-miR-766 hsa-miR-9 hsa-miR-2116

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HLCS (see all 4) OriGene shRNA RFP: HLCS OriGene siRNA: HLCS
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HLCS

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HLCS (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HLCS OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: HLCS (NM_000411)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for HLCS
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HLCS

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HLCS Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat HLCS
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HLCS
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HLCS

Additional cDNA sequence:

AJ001864.1 AK307940.1 AK314189.1 BC060787.1 D23672.2 D87328.1 X80160.1

8 DOTS entries:

DT.87016761 DT.95322534 DT.121130831 DT.97819961 DT.95188497 DT.121130826 DT.435409 DT.92427566

24/117 AceView cDNA sequences (see all 117):

X80160 BC060787 F10768 Z40551 BE671228 AA450362 AI093337 AI889556

AA993715 NM_000411 F06296 F02586 BM930024 BE503952 Z44722 BF224167

AI951058 BQ717432 AW014529 BM670849 F10644 CB529960 AL043776 AL043777

GeneLoc Exon Structure

5/15 Alternative Splicing Database (ASD) splice patterns (SP) for HLCS (see all 15) About this scheme

ExUns:	1a	·	1b	^	2	^	3a	·	3b	·	3c	·	3d	^	4	^	5a	·	5b	^	6a	·	6b	^	7a	·	7b	^	8	^	9a	·	9b	^	10a	·	10b	·	10c	·	10d	·	10e	·	10f	·	10g	·	10h	^	11a	·
SP1:					-		-		-		-		-		-		-		-						-		-
SP2:																													-
SP3:							-		-		-		-		-		-		-						-		-
SP4:															-		-		-						-		-
SP5:					-		-		-		-		-		-		-		-								-		-

ExUns:	11b	^	12a	·	12b	^	13	^	14	^	15	^	16	^	17	^	18a	·	18b	^	19	^	20
SP1:					-		-		-												-
SP2:					-		-		-												-
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for HLCS

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

HLCS expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGAGAATCCT

About this image
See HLCS Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HLCS

SOURCE GeneReport for Unigene cluster: Hs.371350

UniProtKB/Swiss-Prot: BPL1_HUMAN, P50747

Tissue specificity: Mostly expressed in muscle, placenta, in lesser extent in the brain, kidney, pancreas, liver and

lung

SABiosciences Custom PCR Arrays for HLCS

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HLCS Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat HLCS
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HLCS
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HLCS

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLCS

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for HLCS gene from 8/26 species (see all 26) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Hlcs^{1 , 5}	holocarboxylase synthetase (biotin- [propriony-Coenzyme more^{1, 5}	78.64(n)¹ 77.25(a)¹		16 (55.12 cM)⁵ 110948¹ NM_139145.4¹ NP_631884.1¹ 94129306⁵
chicken (Gallus gallus)	Aves	HLCS¹	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase more	64.76(n) 60.84(a)		418516 XM_416725.3 XP_416725.1
lizard (Anolis carolinensis)	Reptilia	HLCS⁶	--	60(a)	1 ↔ 1	3(141030353-141130832)
zebrafish (Danio rerio)	Actinopterygii	Dr.12060²	Transcribed sequence with weak similarity to protein more	71.88(n)		CD753666.1
fruit fly (Drosophila melanogaster)	Insecta	Hcs⁶	Holocarboxylase synthetase	19(a)	1 ↔ 1	3R(1300624-1311115)
worm (Caenorhabditis elegans)	Secernentea	bpl-1¹	Protein BPL-1	42.29(n) 30.16(a)		174039 NM_062856.5 NP_495257.3
thale cress (Arabidopsis thaliana)	eudicotyledons	HCS1¹	holocarboxylase synthase 1	45.22(n) 33.46(a)		817112 NM_179736.1 NP_850067.1
rice (Oryza sativa)	Liliopsida	--	biotin--protein ligase, putative, expressed	24(a)	1 ↔ 1	2(3607086-3610231)

ENSEMBL Gene Tree for HLCS (if available)
TreeFam Gene Tree for HLCS (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 21 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs73398117^1,2	C,	--	23598854(+)	`TGGCCC/TTTGTG`	3	--	ds500¹		1	WA	2
rs112591275^1,2		--	23599420(+)	`GCTTAC/TGCTTT`	3	--	ut3¹		1	CSA	2
rs73210780^1,2	C,F,	--	23599742(+)	`TCAACC/TANNNN`	3	--	ut3¹		1	NA	120
rs73398120^1,2	C,	--	23600641(+)	`GCAGAC/TGCCCT`	3	--	ut3¹		1	WA	2
rs78926199^1,2	C,F,	--	23600882(+)	`TTTCAT/CAGGGC`	3	--	ut3¹		1	WA	118
rs73902720^1,2	C,	--	23601160(+)	`GGCATG/TGCGTA`	3	--	ut3¹		2	WA	120
rs116526486^1,2	C,F,	--	23601819(+)	`CCACCG/AGGTGG`	3	--	ut3¹		1	WA	118
rs9967991^1,2	C,F,A,	--	23601845(+)	`AGTCTG/ATCTTC`	3	--	ut3¹ ese³		3	WA	122
rs76983917^1,2	C,F,	--	23602094(+)	`TAAACG/ATAAGT`	3	--	ut3¹		1	WA	118
rs73398122^1,2	C,F,	--	23602107(+)	`AAGCCA/GCAGAG`	3	--	ut3¹		4	WA CSA	125

HapMap Linkage Disequilibrium report for HLCS (38123189 - 38362536 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for HLCS
5 CNVs: 35970 67784 90771 8895 90772
Human Gene Mutation Database (HGMD): HLCS

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HLCS

DNA2.0 Custom Variant and Variant Library Synthesis for HLCS

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

HLCS for disorders           About GeneDecksing

OMIM gene information: 609018
OMIM disorders: 253270
UniProtKB/Swiss-Prot: BPL1_HUMAN, P50747

Defects in HLCS are the cause of holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]; also

known as biotin-responsive multiple carboxylase deficiency. HLCS deficiency is a neonatal form of multiple carboxylase

deficiency, an autosomal recessive disorder characterized by metabolic ketoacidosis, hyperammonemia, excretion of

abnormal organic acid metabolites and dermatitis. Clinical and biochemical symptoms improve dramatically with

administration of biotin

20/21 diseases for HLCS (see all 21): About MalaCards

holocarboxylase synthetase deficiency propionic acidemia multiple carboxylase deficiency biotinidase deficiency

down syndrome critical region organic acidemia glycogen storage disease metabolic disorders

diabetic ketoacidosis down syndrome cerebral palsy hypoglycemia

ichthyosis candidiasis dermatitis alopecia

hypotonia vaginitis cerebritis tuberculosis

4 diseases from the University of Copenhagen DISEASES database for HLCS:

Holocarboxylase synthetase deficiency Biotinidase deficiency Metabolic acidosis Organic acidemia

10/16 Novoseek disease relationships for HLCS gene (see all 16) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
holocarboxylase synthetase deficiency	99.1	54	9758715 (4), 16650223 (4), 8982946 (3), 16494802 (2) (see all 36)
multiple carboxylase deficiency	98.7	39	8817339 (2), 18429047 (2), 2123277 (1), 9350481 (1) (see all 24)
biotinidase deficiency	91.4	15	18845537 (2), 9492625 (2), 2123277 (1), 7825232 (1) (see all 11)
aciduria organic	81.5	4	12633764 (1), 8541348 (1)
metabolic acidosis	64.6	5	16650223 (1), 8541348 (1), 10234606 (1), 19695181 (1)
propionic acidemia	58.2	1	16997619 (1)
metabolic disorder	54.1	9	8319716 (1), 15095958 (1), 10770035 (1), 16494802 (1) (see all 6)
methylmalonic aciduria	47.9	3	16997619 (1)
ketosis	39.7	1	11196112 (1)
ketoacidosis	37.5	3	10190325 (1), 10653324 (1)

Genatlas disease: HLCS

multiple carboxylase deficiency,early onset with feeding difficulties,hypotonia,seizures,lethargy and metabolic

acidosis mild,hyperammonemia,organic aciduria

Export disorders for HLCS gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for HLCS gene, integrated from 9 sources (see all 149):
(articles sorted by number of sources associating them with HLCS)

Utopia: connect your pdf to the dynamic
world of online information

Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA. (PubMed id 7842009)^{1, 2, 3, 9} Suzuki Y.... Narisawa K. (1994)
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency. (PubMed id 11735028)^{1, 2, 9} Yang X.... Suzuki Y. (2001)
Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency. (PubMed id 18429047)^{1, 2, 9} Bailey L.M....Polyak S.W. (2008)
Characterization of mutant holocarboxylase synthetase (HCS): a Km for biotin was not elevated in a patient with HCS deficiency. (PubMed id 9396568)^{1, 2, 9} Aoki Y....Narisawa K. (1997)
Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency. (PubMed id 8817339)^{1, 2, 9} Dupuis L.... Gravel R.A. (1996)
Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients. (PubMed id 8541348)^{1, 2, 9} Aoki Y.... Narisawa K. (1995)
Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency. (PubMed id 10190325)^{1, 2, 9} Aoki Y.... Narisawa K. (1999)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency. (PubMed id 12124727)^{1, 2} Morrone A.... Zammarchi E. (2002)
The DNA sequence of human chromosome 21. (PubMed id 10830953)^{1, 2} Hattori M....Yaspo M.L. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3141	HGNC: 4976	AceView: HLCS	Ensembl:ENSG00000159267	euGenes: HUgn3141
ECgene: HLCS	Kegg: 3141	H-InvDB: HLCS

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for HLCS	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HLCS

Intellectual Property for HLCS gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for HLCS gene:
Search GeneIP for patents involving HLCS

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	OriGene Antibodies for HLCS		OriGene shRNA RFP for HLCS
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HLCS		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HLCS
	OriGene Protein Over-expression Lysate for HLCS		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for HLCS		OriGene 3'-UTR Clone for HLCS
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HLCS		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HLCS
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	OriGene Purified Protein for HLCS		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for HLCS		OriGene Custom Protein Services for HLCS
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HLCS
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HLCS
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HLCS
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HLCS
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HLCS
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HLCS

	GenScript Custom Purified and Recombinant Proteins Services for HLCS		GenScript cDNA clones with any tag delivered in your preferred vector for HLCS
	GenScript Custom Assay Services for HLCS		GenScript Custom Superior Antibodies Services for HLCS
	GenScript Custom overexpressing Cell Line Services for HLCS		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in HLCS promoter
	Search Chromatin IP Primers for HLCS
	RT² qPCR Primer Assay in human, mouse, rat HLCS
	Search GNC Networks for HLCS
	SABiosciences Custom PCR Arrays for HLCS

Search Tocris compounds for HLCS

	Browse Sino Biological Proteins and Antibodies
	cDNA Clones for HLCS
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	HLCS antibodies
	HLCS proteins
	HLCS lysates

	Antibodies for HLCS
	See all of Abcam's Antibodies, Kits and Proteins for HLCS
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

HLCS Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for HLCS

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLCS

	Browse SwitchGear 3'UTR luciferase reporter plasmids for HLCS
	SwitchGear Promoter luciferase reporter plasmids for HLCS

Search ThermoFisher Antibodies for HLCS

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HLCS

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes HLCS gene at Home site.

hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4

Advanced Search

Export list of displayed genes

HLCS Gene

holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase...

Aliases
for HLCS gene

Summaries
for HLCS gene

Genomic Views
for HLCS gene

Proteins
for HLCS gene

Protein Domains /
Families
for HLCS gene

Function
for HLCS gene

Pathways & Interactions
for HLCS gene

Drugs & Compounds
for HLCS gene

Transcripts
for HLCS gene

Expression
for HLCS gene

Orthologs
for HLCS gene

Paralogs
for HLCS gene

Genomic Variants
for HLCS gene

Disorders / Diseases
for HLCS gene

Publications
for HLCS gene

External Searches for HLCS gene

Genome Databases showing HLCS gene

Other Databases showing HLCS gene

Specialized Databases showing HLCS gene

Intellectual Property
for HLCS gene

Products
for HLCS gene

View Random Gene

Advanced Search

Export list of displayed genes

HLCS Gene

holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase...

Aliasesfor HLCS gene

Summariesfor HLCS gene

Genomic Viewsfor HLCS gene

Proteinsfor HLCS gene

Protein Domains /Familiesfor HLCS gene

Functionfor HLCS gene

Pathways & Interactionsfor HLCS gene

Drugs & Compoundsfor HLCS gene

Transcriptsfor HLCS gene

Expression for HLCS gene

Orthologsfor HLCS gene

Paralogsfor HLCS gene

Genomic Variantsfor HLCS gene

Disorders / Diseasesfor HLCS gene

Publicationsfor HLCS gene

External Searches for HLCS gene

Genome Databases showing HLCS gene

Other Databases showing HLCS gene

Specialized Databases showing HLCS gene

Intellectual Propertyfor HLCS gene

Productsfor HLCS gene

View Random Gene

Aliases
for HLCS gene

Summaries
for HLCS gene

Genomic Views
for HLCS gene

Proteins
for HLCS gene

Protein Domains /
Families
for HLCS gene

Function
for HLCS gene

Pathways & Interactions
for HLCS gene

Drugs & Compounds
for HLCS gene

Transcripts
for HLCS gene

Expression
for HLCS gene

Orthologs
for HLCS gene

Paralogs
for HLCS gene

Genomic Variants
for HLCS gene

Disorders / Diseases
for HLCS gene

Publications
for HLCS gene

Intellectual Property
for HLCS gene

Products
for HLCS gene